A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658575



Internal ID9577994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:19200385..19701927hg38UCSC Ensembl
chr13:19774525..20276067hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38501543
hg19501543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv334e199
Supporting Variantsessv5982841, essv6154266, essv6364251, essv5629348, essv6020644, essv5630868, essv5963248, essv5475525, essv6308869
SamplesNA19332, HG01066, NA19660, HG01440, HG00731, HG01360, HG01148, NA19334, HG01342
Known GenesANKRD26P3, LINC00421, MPHOSPH8, PSPC1, TPTE2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658575
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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